Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence von LEHTONEN, ANNUKKA, HOWIE, EMMA, TRUMP, DOROTHY, HUSON, SUSAN M

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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy von Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A, Stadnik, Paulina, Joseph, Agnel P, Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M, Jacques, Thomas S, James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M, Khan, Amjad, Lindhurst, Marjorie J, Lipson, Mark, Mansour, Sahar, O'Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E, Rivière, Jean-Baptiste, Sapp, Julie C, Sebire, Neil J, Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G, Barnacle, Alex, Topf, Maya, Semple, Robert K, Patton, E Elizabeth, Kinsler, Veronica A

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Neurofibromatosis type 1 and autism spectrum disorder von Garg, Shruti, Green, Jonathan, Leadbitter, Kathy, Emsley, Richard, Lehtonen, Annukka, Evans, D Gareth, Huson, Susan M

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Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population‐based study von GARG, SHRUTI, LEHTONEN, ANNUKKA, HUSON, SUSAN M, EMSLEY, RICHARD, TRUMP, DOROTHY, EVANS, D GARETH, GREEN, JONATHAN

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 von Ferner, Rosalie E, Huson, Susan M, Thomas, Nick, Moss, Celia, Willshaw, Harry, Evans, D Gareth, Upadhyaya, Meena, Towers, Richard, Gleeson, Michael, Steiger, Christine, Kirby, Amanda

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Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989 von EVANS, D. Gareth R, O'HARA, Catherine, WILDING, Anna, INGHAM, Sarah L, HOWARD, Elizabeth, DAWSON, John, MORAN, Anthony, SCOTT-KITCHING, Vilka, HOLT, Felicity, HUSON, Susan M

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Life expectancy in hereditary cancer predisposing diseases: an observational study von Wilding, Anna, Ingham, Sarah Louise, Lalloo, Fiona, Clancy, Tara, Huson, Susan M, Moran, Anthony, Evans, D Gareth

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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA von Lindhurst, Marjorie J, Parker, Victoria E R, Payne, Felicity, Sapp, Julie C, Rudge, Simon, Harris, Julie, Witkowski, Alison M, Zhang, Qifeng, Groeneveld, Matthijs P, Scott, Carol E, Daly, Allan, Huson, Susan M, Tosi, Laura L, Cunningham, Michael L, Darling, Thomas N, Geer, Joseph, Gucev, Zoran, Sutton, V Reid, Tziotzios, Christos, Dixon, Adrian K, Helliwell, Timothy, O'Rahilly, Stephen, Savage, David B, Wakelam, Michael J O, Barroso, Inês, Biesecker, Leslie G, Semple, Robert K

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The clinical and diagnostic implications of mosaicism in the neurofibromatoses von RUGGIERI, Martino, HUSON, Susan M

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Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway von Garg, Shruti, Brooks, Ami, Burns, Amy, Burkitt‐Wright, Emma, Kerr, Bronwyn, Huson, Susan, Emsley, Richard, Green, Jonathan

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Cognition in children with neurofibromatosis type 1: data from a population‐based study von Lehtonen, Annukka, Garg, Shruti, Roberts, Stephen A, Trump, Dorothy, Evans, D Gareth, Green, Jonathan, Huson, Susan M

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Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy von Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A, Stadnik, Paulina, Joseph, Agnel P, Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M, Jacques, Thomas S, James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M, Khan, Amjad, Lindhurst, Marjorie J, Lipson, Mark, Mansour, Sahar, O'Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E, Rivière, Jean-Baptiste, Sapp, Julie C, Sebire, Neil J, Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G, Barnacle, Alex, Topf, Maya, Semple, Robert K, Patton, E Elizabeth, Kinsler, Veronica A

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Malignant peripheral nerve sheath tumours in inherited disease von Evans, D Gareth R, Huson, Susan M, Birch, Jillian M

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Autism Spectrum Disorder Symptom Profile Across the RASopathies von Geoffray, Marie-Maude, Falissard, Bruno, Green, Jonathan, Kerr, Browyn, Evans, D. Gareth, Huson, Susan, Burkitt-Wright, Emma, Garg, Shruti

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Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at... von Smith, Miriam J, Higgs, Jenny E, Bowers, Naomi L, Halliday, Dorothy, Paterson, Joan, Gillespie, James, Huson, Susan M, Freeman, Simon R, Lloyd, Simon, Rutherford, Scott A, King, Andrew T, Wallace, Andrew J, Ramsden, Richard T, Evans, D Gareth R

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum von Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis von Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R

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Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2 von Blakeley, Jaishri O., Evans, D. Gareth, Adler, John, Brackmann, Derald, Chen, Ruihong, Ferner, Rosalie E., Hanemann, C. Oliver, Harris, Gordon, Huson, Susan M., Jacob, Abraham, Kalamarides, Michel, Karajannis, Matthias A., Korf, Bruce R., Mautner, Victor-Felix, McClatchey, Andrea I., Miao, Harry, Plotkin, Scott R., Slattery III, William, Stemmer-Rachamimov, Anat O., Welling, D. Bradley, Wen, Patrick Y., Widemann, Brigitte, Hunter-Schaedle, Kim, Giovannini, Marco

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Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation von Ben-Shachar, Shay, Constantini, Shlomi, Hallevi, Hen, Sach, Emma K, Upadhyaya, Meena, Evans, Gareth D, Huson, Susan M

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Malignant peripheral nerve sheath tumours in NF1: Improved survival in women and in recent years von Ingham, Sarah, Huson, Susan M, Moran, Anthony, Wylie, James, Leahy, Michael, Evans, D. Gareth R

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